Canonical Allele Identifier: CA026346

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 52926
• ClinVar RCV Id: RCV000083165 ; RCV000165163 ; RCV000438846 ; RCV000985255 ; RCV001363034 ; RCV001535553
• dbSNP Id: rs80359256
• gnomAD v4: 13-32398465-A-C
• MyVariant Identifiers: chr13:g.32972602A>C (hg19) ; chr13:g.32398465A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398465A>C , CM000675.2:g.32398465A>C	GRCh38
NC_000013.10:g.32972602A>C , CM000675.1:g.32972602A>C	GRCh37
NC_000013.9:g.31870602A>C	NCBI36
NG_012772.3:g.87986A>C , LRG_293:g.87986A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*475A>C	ENSP00000434898.2:n.*475A>C
ENST00000528762.2:c.*1319A>C	ENSP00000433168.2:n.*1319A>C
ENST00000530893.7:c.9583A>C	ENSP00000499438.2:p.Asn3195His
ENST00000665585.2:c.*1514A>C	ENSP00000499570.2:n.*1514A>C
ENST00000700202.2:c.9901A>C	ENSP00000514856.2:p.Asn3301His
ENST00000700202.1:c.2368A>C	ENSP00000514856.1:p.Asn790His
ENST00000700203.1:n.2079A>C
ENST00000380152.8:c.9952A>C MANE Select	ENSP00000369497.3:p.Asn3318His
ENST00000544455.6:c.9952A>C	ENSP00000439902.1:p.Asn3318His
ENST00000614259.2:c.9960A>C	ENSP00000506251.1:n.9960A>C
ENST00000680887.1:c.9952A>C	ENSP00000505508.1:p.Asn3318His
ENST00000380152.7:c.9952A>C	ENSP00000369497.3:p.Asn3318His
ENST00000544455.5:c.9952A>C	ENSP00000439902.1:p.Asn3318His
NM_000059.3:c.9952A>C , LRG_293t1:c.9952A>C	NP_000050.2:p.Asn3318His
XM_011535203.1:c.9952A>C	XP_011533505.1:p.Asn3318His
XM_011535204.1:c.9856A>C	XP_011533506.1:p.Asn3286His
NM_000059.4:c.9952A>C MANE Select	NP_000050.3:p.Asn3318His